1 / 37

Genetic and Pediatric Diseases

Genetic and Pediatric Diseases. Chapter 6. جلسه اول. دكتر پورلك. Diseases Caused by Mutations in Genes Encoding Structural Proteins. Marfan Syndrome Ehlers-Danlos Syndromes. عارضه غیرعادی چیست و مربوط به کدام بیماری است؟.

orlandoj
Download Presentation

Genetic and Pediatric Diseases

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Genetic and Pediatric Diseases Chapter 6

  2. جلسه اول دكتر پورلك

  3. Diseases Caused by Mutations in GenesEncoding Structural Proteins Marfan Syndrome Ehlers-Danlos Syndromes

  4. عارضه غیرعادی چیست و مربوط به کدام بیماری است؟

  5. Marfan Syndrome: patient’s long fingers will show significant overlap

  6. عارضه غیرعادی چیست و مربوط به کدام بیماری است؟

  7. Normally, your thumb won’t stick out the end of your fist – but check out how far patient’s sticks out

  8. نام بیماری چیست؟

  9. Ehlers-Danlos Syndromes

  10. نام بیماری چیست؟

  11. Ehlers-Danlos Syndromes

  12. نام بیماری چیست؟

  13. Ehlers-Danlos Syndromes

  14. Diseases Caused by Mutations in Genes EncodingReceptor Proteins or Channels Familial Hypercholesterolemia Cystic Fibrosis

  15. Familial Hypercholesterolemia • Skin xanthomas • premature atherosclerosis

  16. نام عارضه پوستی چیست؟

  17. Skin xanthoma

  18. عارضه عروقی چیست؟

  19. atherosclerosis

  20. بیماری چیست؟

  21. Cystic Fibrosis • Mild to moderate changes of cystic fibrosis in the pancreas. • The ducts are dilated and plugged with eosinophilic mucin, and the parenchymal glands are atrophic and replaced by fibrous tissue

  22. نام بیماری چیست؟

  23. Lungs of a patient who died of cystic fibrosis • Extensive mucous plugging and dilation of the tracheobronchial tree are apparent. • The pulmonary parenchyma is consolidated by a combination of both secretions and pneumonia • the greenish discoloration is the product of Pseudomonas infections.

  24. عارضه پانکراس چیست؟

  25. Pancreas in cystic fibrosis, severe degree: Interstitialfibrosissparing islets

  26. Lysosomal Storage Diseases Tay-Sachs Disease Niemann-Pick Disease Gaucher Disease

  27. عارضه مغزی چیست؟

  28. Tay-Sachs disease a large neuron has obvious lipid vacuolation

  29. عارضه مغزی چیست؟ تکنیک به کار رفته چیست؟

  30. Tay-Sachs diseaseelectron microscope A portion of a neuronshows prominent lysosomes with whorled configurations

  31. عارضه کبدی چیست؟

  32. Niemann-Pick disease in liver.

  33. The hepatocytes and Kupffer cells have a foamy, vacuolated appearance resulting from deposition of lipids.

  34. ضایعه مغزاستخوان چیست؟

  35. Gaucher disease involving the bone marrow:. abundant lipid-laden granular cytoplasm

  36. این سلول مربوط به کدام بیماری ذخیره لیزوزومی است؟ تکنیک به کار رفته چیست؟

  37. Electron micrograph of Gaucher cells with elongated distended lysosomes.

More Related